Chimerism pp 65-79 | Cite as

Prenatal Genetic Testing and Screening

  • Ignatia B. Van den VeyverEmail author


Although the maternal and placental/fetal blood circulations are physically separate, there is bidirectional exchange of small numbers of cells between the mother and fetus. Cell-free fetal DNA also circulates in maternal plasma during pregnancy. Certain cell types can reside in maternal organs for decades (long-term fetal microchimerism), but the majority of circulating fetal cells disappear after delivery (short-term fetal microchimerism). Noninvasive prenatal genetic diagnosis by isolating rare circulating fetal cells and analyzing their DNA content is a promising area of intense investigation but is not yet optimized for clinical use because of the challenges with cell purification. Cell-free fetal DNA in maternal plasma, thought to derive from apoptotic trophoblasts, is already clinically used for noninvasive screening for fetal chromosomal abnormalities and single gene disorders. Other sources of maternal chimerism, such as iatrogenic chimerism from organ and stem-cell transplants, can affect the efficacy and interpretation of cell-free fetal DNA-based screening and testing. Chimerism found in very rare dizygotic monochorionic twins with placental vascular anastomoses can complicate interpretation of prenatal genetic testing results, especially from cord blood samples. These possibilities should be considered when prenatal genetic screening and testing yield unexpected and difficult to interpret results.


Chimerism Fetal circulating cells Twins Prenatal genetic diagnosis Cell-free fetal DNA 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Obstetrics and GynecologyBaylor College of MedicineHoustonUSA
  2. 2.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  3. 3.Pavilion for WomenTexas Children’s HospitalHoustonUSA
  4. 4.Duncan Neurological Research InstituteTexas Children’s HospitalHoustonUSA

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